Varaico: Literature-Extracted Genetic Variants

PCDHGA3

89 papers

RefSeq Summary

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggestin...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Cadherin_C_2aa 688–772UCSCCadherin cytoplasmic C-terminal

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 3

HGNC Alias Symbol

PCDH-GAMMA-A3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018916.4

p.E111D

c.333G>C

Surrounding Variants

1 paper

NM_018916.4

p.E111D

c.333G>T

1 paper

NM_018916.4

p.L114fs

c.340_341fs

1 paper

NM_018916.4

p.N107S

c.320A>G

1 paper

NM_018916.4

p.F133L

c.397T>C

1 paper

NM_018916.4

p.L138F

c.414G>T

2 papers

NM_018916.4

p.I140T

c.419T>C

2 papers

NM_018916.4

p.G82V

c.245G>T

1 paper

NM_018916.4

p.P79R

c.236C>G

2 papers

NM_018916.4

p.P79S

c.235C>T

1 paper

NM_018916.4

p.T146T

c.438G>C

1 paper

NM_018916.4

p.T72M

c.215C>T

1 paper

NM_018916.4

p.R71R

c.213G>A